Major Awards

Current Research Interests

Twenty-two genes including GC1 (LCA1), RPE65 (LCA2), and LRAT (LCA14) have been associated with LCA. Retinal cone photoreceptors (light detecting cells in the eye) responsible for high-resolution daylight vision and color perception are dying in LCA patients. The mechanism underlying cone death is not well understood. The large number of gene mutations involved and diverse functions affected create a challenge in designing LCA treatments. The goal of Dr. Fu’s research is to identify common mechanisms underlying cone death in order to find a common treatment strategy to protect cones and preserve vision across multiple forms of LCAs.

Plans for 2018

For quite some time, scientists do not understand why certain cone photoreceptors are more susceptible to degeneration than others in LCA. Dr. Fu’s group is the first to show that the “culprit” is the light detecting proteins in cones – cone opsins. Specifically, the blue opsin (or S-opsin) accumulates and aggregates in cones causing excessive stress in the endoplasmic reticulum (ER, the manufacturing and packaging system in the cell) and rapid blue cone death. Dr. Fu’s team is going to investigate whether this is a general mechanism for blue cone death across multiple forms of LCA. Dr. Fu’s published results have demonstrated that this is the case in LCA2/LCA14. He will expand the study to LCA1 in this application by genetically deleting the blue opsin from LCA1 mouse model to protect cones from the toxic opsin buildup. LCA1 account for 10–20% of all LCA cases, making it one of the most prevalent forms of LCA. Furthermore, since red/green cones dominate in human eye, Dr. Fu plans to investigate the mechanism of “red/green cone” degeneration in multiple LCA models.

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Mission of RRF

The mission of the Retina Research Foundation is to reduce retinal blindness worldwide by funding programs in research and education. As a public charity, RRF raises funds from the private sector and the investment of its endowment funds.